698762005: Refractory myoclonic epilepsy (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2981183010 Refractory myoclonic epilepsy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2981218015 Refractory myoclonic epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2981285013 Intractable myoclonic epilepsy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Refractory myoclonic epilepsy	Is a	kryptogen generaliseret epilepsi	false	Inferred relationship	Some
Refractory myoclonic epilepsy	Is a	refraktær epilepsi	false	Inferred relationship	Some
Refractory myoclonic epilepsy	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	false	Inferred relationship	Some	1
Refractory myoclonic epilepsy	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Refractory myoclonic epilepsy	Is a	Myoklonusanfald	false	Inferred relationship	Some
Refractory myoclonic epilepsy	Is a	A type of epilepsy with only generalised onset epileptic seizures.	false	Inferred relationship	Some
Refractory myoclonic epilepsy	Interprets	Movement	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant.	Is a	False	Refractory myoclonic epilepsy	Inferred relationship	Some
Refractory juvenile myoclonic epilepsy	Is a	False	Refractory myoclonic epilepsy	Inferred relationship	Some

Reference Sets

POSSIBLY REPLACED BY association reference set (foundation metadata concept)

Concept inactivation indicator reference set